Fabry disease: Review and experience during newborn screening

Area of Science:

• Genetics and rare diseases
• Lysosomal storage disorders
• Metabolic diseases

Background:

• Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the α-Galactosidase A gene.
• This genetic defect leads to α-Galactosidase A enzyme deficiency and glycosphingolipid accumulation.
• Both classic and late-onset FD present with multi-systemic involvement, affecting vital organs and leading to severe morbidity.

Purpose of the Study:

• To raise awareness for early recognition and management of Fabry disease.
• To highlight the importance of newborn screening for early FD detection.
• To emphasize the critical timing of enzyme replacement therapy (ERT) for preventing organ damage.

Main Methods:

• Review of existing literature and newborn screening studies on Fabry disease.
• Analysis of FD prevalence based on screening data.
• Evaluation of the impact of early intervention and ERT.

Main Results:

• Newborn screening enables early identification of individuals with Fabry mutations.
• The prevalence of late-onset FD is significantly higher than the classic form.
• Early detection reveals insidious, irreversible organ damage may occur even in asymptomatic individuals.

Conclusions:

• Newborn screening is vital for timely Fabry disease diagnosis and intervention.
• Enzyme replacement therapy, when initiated early, can stabilize disease progression.
• Future therapies like pharmacological chaperones and substrate reduction therapy show promise for FD management.